Results 101 to 110 of about 47,680 (217)

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular Tachycardia. [PDF]

Mol Genet Genomic Med
A novel homozygous frameshift variant in the MYO6 gene (c.2496_2497delAC; p.H833Qfs*5) was identified in a neonate presenting with bilateral congenital sensorineural hearing loss, paroxysmal supraventricular tachycardia (SVT), and prolonged QT interval.
Kalayinia S, Masoumi T, Taherkhani A, Mahdieh N, Khorgami M, Maleki M.   +5 more
europepmc   +2 more sources

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Determinants of Speech Perception Outcomes After Hearing Aid Fitting in Conductive and Sensorineural Hearing Loss: A Prospective Longitudinal Observational Study. [PDF]

Audiol Res
Izbassarova A, Imangaliyeva A, Bakhshinyan V, Suatbayeva R, Mavlyanova Z, Izbassarova A, Auyelbayev M, Kumar K, Aidaralieva A.   +8 more
europepmc   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Exploring causal associations between autoimmune diseases and hearing loss: a mendelian randomization study. [PDF]

Braz J Otorhinolaryngol
Huang Y, Gao S, Luo R.
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Hearing Outcomes During Induction Therapy in ANCA-Associated Vasculitis: Applicability of Sudden Sensorineural Hearing Loss Criteria. [PDF]

J Clin Med
Kaczmarczyk MS, Krzywdzińska S, Rozbicki P, Usowski J, Jadczak M, Jurkiewicz D, Sobol M, Niemczyk S, Głuch E, Leśniak K.   +9 more
europepmc   +1 more source

Identification of Frailty Subtypes in African American Adults With and Without Type 2 Diabetes: A Latent Class Analysis From the Jackson Heart Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To identify frailty subtypes among African American adults with and without diabetes. Methods This analysis included data from 3979 African American men and women who enrolled in the Jackson Heart Study at baseline (Exam1: 2000–2004). To identify frailty subtypes, we selected 25 age‐related deficits in health and functional outcomes as ...
Felicia R. Simpson, Mark A. Espeland, Alain G. Bertoni, Jai J. Legins, Torre S. Lloyd, Tanaiya A. Sumter   +5 more
wiley   +1 more source